WEScover: selection between clinical whole exome sequencing and gene panel testing

Abstract Background Whole exome sequencing (WES) is widely adopted in clinical and research settings; however, one of the practical concerns potential false negatives due to incomplete breadth depth coverage for several exons clinically implicated genes. In some cases, a targeted gene panel testing may be dependable option ascertain true genomic variants known disease-associated We developed web-based tool quickly gauge whether all genes interest would reliably covered by WES or should considered instead minimize candidate Results WEScover novel web application that provides an intuitive user interface discovering across population-scale datasets, searching either phenotype, panel(s) gene(s). Moreover, shows metrics from Genome Aggregation Database provide gene-centric view on coverage. Conclusions allows users efficiently query phenotypes associated recommends use tests with WES.